EFEMP2-Related Cutis Laxa.
Loeys B, De Paepe A, Urban Z.
Loeys B, et al.
2011 May 12 [updated 2023 Jun 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2011 May 12 [updated 2023 Jun 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 21563328
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Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems. DIAGNOSIS/TESTING: The diagnosis of EFEMP2-related cutis laxa is established in a proband with suggestive findings and bialle …
Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial s …